Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Further rare causes of hypogonadotropic hypogonadism

Secondary hypogonadism might develop due to GnRH receptor mutations, leptin and leptin receptor mutations resulting in severe obesity, mutations of the gene coding for prohormone convertase involved in the activation of peptide hormones and mutations in the kisspeptin receptor (KISS1R - GPR54 gene) that is important in the regulation of GnRH neurons. A very interesting phenotype of hypogonadotropic hypogonadism associated with adrenocortical insufficiency can occur due to mutations of the NR0B1 gene (Nuclear Receptor Subfamily 0 Group B Member 1, formerly known as DAX1 gene, Dosage-Sensitive Sex Reversal, Adrenal Hypoplasia Critical Region, on Chromosome X) and the NR5A1 gene (Nuclear Receptor Subfamily 5 Group A Member 1, formerly known as SF-1, Steroidogenic Factor 1) encoding the transcription factor steroidogenic factor-1 (SF1).

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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